NM_000489.4:c.134-2A>G

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HGVS Expressions

  • NG_008838.2:g.92591A>G
  • NM_000489.4:c.134-2A>G
  • NP_000480.3:p.?
  • NC_000023.11:g.77698631T>C

Associated Genes

ATR-X Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

398123420

Clinvar

93130

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
309580.3United Arab Emirates2Likely PathogenicMental Retardation-Hypotonic Facies Syndrome, X-Linked, 1Saleh et al. 2021
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Contributors

  • Pratibha Nair: 24.01.2022

Edit History

  • Sayeeda Hana: 07.12.2022
  • Pratibha Nair: 24.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.